Rabah Alreshq1,2, Frederick L Ruberg1,2,3. 1. Section of Cardiovascular Medicine, Department of Medicine. 2. Amyloidosis Center. 3. Department of Radiology, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts, USA.
Abstract
PURPOSE OF REVIEW: To highlight the evolving understanding of genetic variants, utility of genetic testing, and the selection of novel therapies for cardiac amyloidosis. RECENT FINDINGS: The last decade has seen considerable progress in cardiac amyloidosis recognition given the advancement in cardiac imaging techniques and widespread availability of genetic testing. A significant shift in the understanding of a genetic basis for amyloidosis has led to the development of disease-modifying therapeutic strategies that improve survival. SUMMARY: The systemic amyloidoses are disorders caused by extracellular deposition of misfolded amyloid fibrils in various organs. Immunoglobulin light-chain or transthyretin amyloidosis are the most common types associated with cardiac manifestations. Genetic testing plays a central role in the identification of genotypes that are associated with different clinical phenotypes and influence prognosis. Given the emergence of effective therapies, a systematic approach to the diagnosis of cardiac amyloidosis, with the elucidation of genotype when indicated, is essential to select the appropriate treatment.
PURPOSE OF REVIEW: To highlight the evolving understanding of genetic variants, utility of genetic testing, and the selection of novel therapies for cardiac amyloidosis. RECENT FINDINGS: The last decade has seen considerable progress in cardiac amyloidosis recognition given the advancement in cardiac imaging techniques and widespread availability of genetic testing. A significant shift in the understanding of a genetic basis for amyloidosis has led to the development of disease-modifying therapeutic strategies that improve survival. SUMMARY: The systemic amyloidoses are disorders caused by extracellular deposition of misfolded amyloid fibrils in various organs. Immunoglobulin light-chain or transthyretin amyloidosis are the most common types associated with cardiac manifestations. Genetic testing plays a central role in the identification of genotypes that are associated with different clinical phenotypes and influence prognosis. Given the emergence of effective therapies, a systematic approach to the diagnosis of cardiac amyloidosis, with the elucidation of genotype when indicated, is essential to select the appropriate treatment.
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